FA is caused by changes in genes involved in repairing DNA. Gene therapy and gene editing aim to address that underlying problem. Researchers are studying whether these approaches could improve blood and bone marrow health and, in the longer term, help protect other tissues affected by FA.

Gene therapy generally introduces a working copy of a gene into cells. Gene editing aims to change the DNA sequence itself. Both approaches require careful study to understand how well they work, how they can be delivered and whether they are safe for people with FA.

Building on years of investment

FCF has supported gene therapy research for more than two decades. In 2010, we partnered with Fanconi Hope in the United Kingdom to establish an international gene therapy working group. By bringing investigators together to share expertise and develop studies, the group helped move research toward clinical trials.

Researchers in Spain and the United States have since studied gene therapy for people with FA-A, a form of FA caused by changes in the FANCA gene. These trials collected participants’ own blood-forming stem cells, added a working copy of the gene and returned the cells to the participants. Published findings from the Spanish research showed that corrected cells persisted in some participants and provided evidence that gene therapy could help address bone marrow failure. Long-term follow-up remains important for understanding safety and lasting benefit.

Advancing gene editing through FCF funding

Gene editing presents another possible way to address the genetic cause of FA. FCF funded a collaborative team of seven investigators to study approaches called base editing and prime editing. Their work focuses on correcting FA-related changes in blood-forming stem cells and developing ways to deliver those tools.

The team brings together expertise from several institutions to tackle questions that no single laboratory can solve alone. This gene editing work is preclinical: investigators must establish safety and effectiveness before an approach can be considered for study in people.

Explore the FCF-funded gene editing project

Could gene therapy help prevent cancer?

Improving bone marrow health is one goal. Researchers are also asking whether gene therapy might someday reduce cancer risk in tissues beyond the blood.

With FCF support, Markus Grompe and collaborators began studying whether correcting FA-related defects in cells lining the mouth could help prevent oral cancer. Follow-up funding has allowed this work to continue. Researchers are testing the idea in laboratory models and studying whether gene-corrected cells can persist in oral tissue.

This work is preclinical. More research is needed before anyone can determine whether oral gene therapy could be tested in people or prevent cancer in FA.

Read about the oral gene therapy research

What comes next

Gene therapy and gene editing are long-term areas of FA research. Progress may look different across projects: improving a delivery method, showing that corrected cells persist, gathering safety evidence or advancing an approach to a clinical study.

FCF will continue to support promising research, connect investigators and share meaningful updates as evidence develops. Our goal is to help turn discoveries about FA into safer ways to improve health and reduce cancer risk.